Mutagenetix > Incidental Mutation

Incidental Mutation 'R1748:Herc2'

194117

Institutional Source

Beutler Lab

Gene Symbol

Herc2

Ensembl Gene

ENSMUSG00000030451

Gene Name

HECT and RLD domain containing E3 ubiquitin protein ligase 2

Synonyms

D7H15F32S1, D7H15F37S1, D15F32S1h, rjs, jdf2

MMRRC Submission

039780-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R1748 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55699944-55881548 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 55798571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145997 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076226] [ENSMUST00000164095] [ENSMUST00000205303]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000076226

SMART Domains

Protein: ENSMUSP00000075579
Gene: ENSMUSG00000030451

Domain	Start	End	E-Value	Type
low complexity region	73	87	N/A	INTRINSIC
low complexity region	164	175	N/A	INTRINSIC
low complexity region	198	212	N/A	INTRINSIC
low complexity region	272	281	N/A	INTRINSIC
low complexity region	304	317	N/A	INTRINSIC
Pfam:RCC1	514	567	7.6e-16	PFAM
Pfam:RCC1_2	554	583	6e-9	PFAM
Pfam:RCC1	570	615	7.1e-17	PFAM
Pfam:RCC1_2	606	637	6.9e-8	PFAM
Pfam:RCC1	624	673	7.2e-15	PFAM
Pfam:RCC1	676	725	3.3e-18	PFAM
Pfam:RCC1_2	712	740	1.6e-9	PFAM
low complexity region	854	866	N/A	INTRINSIC
low complexity region	902	913	N/A	INTRINSIC
coiled coil region	950	977	N/A	INTRINSIC
low complexity region	1052	1066	N/A	INTRINSIC
Cyt-b5	1211	1284	1.08e-1	SMART
low complexity region	1310	1316	N/A	INTRINSIC
low complexity region	1440	1446	N/A	INTRINSIC
low complexity region	1545	1563	N/A	INTRINSIC
coiled coil region	1651	1674	N/A	INTRINSIC
Pfam:MIB_HERC2	1871	1933	5.8e-29	PFAM
low complexity region	1939	1952	N/A	INTRINSIC
low complexity region	2211	2222	N/A	INTRINSIC
low complexity region	2381	2388	N/A	INTRINSIC
low complexity region	2402	2416	N/A	INTRINSIC
low complexity region	2521	2540	N/A	INTRINSIC
Pfam:Cul7	2555	2633	2.6e-43	PFAM
ZnF_ZZ	2703	2747	5.39e-11	SMART
APC10	2780	2933	5.1e-41	SMART
TECPR	2978	3019	7.59e0	SMART
Pfam:RCC1_2	3048	3079	9.2e-8	PFAM
Pfam:RCC1	3066	3115	3.7e-17	PFAM
Pfam:RCC1_2	3102	3131	3.9e-11	PFAM
Pfam:RCC1	3118	3162	1.9e-15	PFAM
Pfam:RCC1	3172	3221	9.6e-15	PFAM
Pfam:RCC1_2	3208	3236	2.2e-7	PFAM
TECPR	3241	3284	1.32e2	SMART
low complexity region	3357	3365	N/A	INTRINSIC
low complexity region	3430	3447	N/A	INTRINSIC
low complexity region	3480	3495	N/A	INTRINSIC
low complexity region	3755	3771	N/A	INTRINSIC
TECPR	3972	4012	2.41e1	SMART
Pfam:RCC1_2	4041	4072	5.1e-8	PFAM
Pfam:RCC1	4059	4108	1.5e-16	PFAM
Pfam:RCC1	4111	4155	7.9e-16	PFAM
TECPR	4184	4225	8.42e1	SMART
Pfam:RCC1_2	4253	4282	4.3e-10	PFAM
Pfam:RCC1	4269	4318	1.2e-17	PFAM
Blast:HECTc	4340	4425	6e-18	BLAST
HECTc	4455	4801	1.37e-62	SMART
low complexity region	4808	4828	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000164095

SMART Domains

Protein: ENSMUSP00000131573
Gene: ENSMUSG00000030451

Domain	Start	End	E-Value	Type
low complexity region	73	87	N/A	INTRINSIC
low complexity region	164	175	N/A	INTRINSIC
low complexity region	198	212	N/A	INTRINSIC
low complexity region	272	281	N/A	INTRINSIC
low complexity region	304	317	N/A	INTRINSIC
Pfam:RCC1	514	567	2.9e-15	PFAM
Pfam:RCC1_2	554	583	1.6e-8	PFAM
Pfam:RCC1	570	615	2.3e-16	PFAM
Pfam:RCC1	624	673	1.2e-14	PFAM
Pfam:RCC1_2	660	689	2.1e-7	PFAM
Pfam:RCC1	676	725	9.8e-18	PFAM
Pfam:RCC1_2	712	740	1.1e-9	PFAM
low complexity region	854	866	N/A	INTRINSIC
low complexity region	902	913	N/A	INTRINSIC
coiled coil region	950	977	N/A	INTRINSIC
low complexity region	1052	1066	N/A	INTRINSIC
Cyt-b5	1211	1284	1.08e-1	SMART
low complexity region	1310	1316	N/A	INTRINSIC
low complexity region	1440	1446	N/A	INTRINSIC
low complexity region	1545	1563	N/A	INTRINSIC
coiled coil region	1651	1674	N/A	INTRINSIC
Pfam:MIB_HERC2	1871	1931	9.3e-25	PFAM
low complexity region	1939	1952	N/A	INTRINSIC
low complexity region	2211	2222	N/A	INTRINSIC
low complexity region	2381	2388	N/A	INTRINSIC
low complexity region	2402	2416	N/A	INTRINSIC
low complexity region	2521	2540	N/A	INTRINSIC
Pfam:Cul7	2555	2632	1.4e-39	PFAM
ZnF_ZZ	2703	2747	5.39e-11	SMART
APC10	2780	2933	5.1e-41	SMART
TECPR	2978	3019	7.59e0	SMART
Pfam:RCC1_2	3048	3079	1.6e-7	PFAM
Pfam:RCC1	3066	3115	7.1e-16	PFAM
Pfam:RCC1_2	3102	3131	7.1e-11	PFAM
Pfam:RCC1	3118	3163	1.2e-14	PFAM
Pfam:RCC1	3172	3221	4.7e-15	PFAM
TECPR	3241	3284	1.32e2	SMART
low complexity region	3357	3365	N/A	INTRINSIC
low complexity region	3430	3447	N/A	INTRINSIC
low complexity region	3480	3495	N/A	INTRINSIC
low complexity region	3755	3771	N/A	INTRINSIC
TECPR	3972	4012	2.41e1	SMART
Pfam:RCC1_2	4041	4072	1.2e-7	PFAM
Pfam:RCC1	4059	4108	9.6e-15	PFAM
Pfam:RCC1	4111	4156	5.6e-15	PFAM
TECPR	4184	4225	8.42e1	SMART
Pfam:RCC1_2	4253	4282	7.3e-10	PFAM
Pfam:RCC1	4269	4318	1.6e-16	PFAM
Blast:HECTc	4340	4425	6e-18	BLAST
HECTc	4455	4801	1.37e-62	SMART
low complexity region	4808	4828	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000205303

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygotes for null mutations exhibit runting, nervousness, and incoordination. Males are sterile with sperm abnormalities, while females show reduced fertility and impaired maternal ability. Also see alleles at the Oca2 (p) locus for deletions that encompass the Herc2 gene. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	T	16: 20,152,338 (GRCm39)	Q1403K	probably benign	Het
Adamts12	G	A	15: 11,241,548 (GRCm39)	M373I	probably damaging	Het
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
Aire	T	C	10: 77,879,314 (GRCm39)	H15R	probably damaging	Het
Aldh3b2	T	C	19: 4,027,572 (GRCm39)	F38L	probably damaging	Het
Alk	A	C	17: 72,910,416 (GRCm39)	C97G	probably benign	Het
Ano8	T	C	8: 71,931,602 (GRCm39)		probably benign	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arsk	T	A	13: 76,210,529 (GRCm39)	H506L	probably benign	Het
Asgr2	G	T	11: 69,987,658 (GRCm39)	R52L	probably damaging	Het
Atp2a1	A	G	7: 126,058,780 (GRCm39)	I145T	possibly damaging	Het
Atrnl1	A	G	19: 57,703,134 (GRCm39)	T1051A	probably damaging	Het
Cacna1e	A	T	1: 154,362,315 (GRCm39)	V424D	possibly damaging	Het
Capn3	T	C	2: 120,327,494 (GRCm39)	V574A	probably benign	Het
Capzb	C	A	4: 138,984,679 (GRCm39)	D67E	probably damaging	Het
Ccdc68	A	T	18: 70,089,062 (GRCm39)	T202S	probably benign	Het
Ccser2	T	C	14: 36,618,270 (GRCm39)	K123R	probably damaging	Het
Ccser2	T	A	14: 36,618,271 (GRCm39)	K123*	probably null	Het
Ces2h	T	C	8: 105,744,473 (GRCm39)	I316T	probably benign	Het
Chd3	T	G	11: 69,255,523 (GRCm39)	K122Q	possibly damaging	Het
Col12a1	T	C	9: 79,580,279 (GRCm39)	T1533A	probably benign	Het
Cr2	T	A	1: 194,838,213 (GRCm39)	K1084*	probably null	Het
Ddx28	A	G	8: 106,737,314 (GRCm39)	L248P	probably benign	Het
Depdc5	A	G	5: 33,075,286 (GRCm39)	E488G	probably benign	Het
Dld	T	C	12: 31,384,745 (GRCm39)	T305A	probably benign	Het
Dok5	T	A	2: 170,683,373 (GRCm39)	F211L	probably damaging	Het
Duox2	T	C	2: 122,117,532 (GRCm39)	D934G	probably benign	Het
Eif3a	G	A	19: 60,755,236 (GRCm39)	T982I	unknown	Het
Erbb2	G	T	11: 98,326,161 (GRCm39)	R979L	probably benign	Het
Espl1	G	T	15: 102,206,964 (GRCm39)	V143L	possibly damaging	Het
Fanci	T	C	7: 79,080,236 (GRCm39)	L598P	probably damaging	Het
Fat2	T	A	11: 55,147,473 (GRCm39)	E3923V	probably damaging	Het
Fhod3	A	T	18: 24,903,550 (GRCm39)	K95*	probably null	Het
Gpr108	G	T	17: 57,543,217 (GRCm39)	T484K	probably damaging	Het
Hao1	T	A	2: 134,340,238 (GRCm39)	N351I	possibly damaging	Het
Hepacam	A	T	9: 37,295,189 (GRCm39)	N308I	possibly damaging	Het
Hltf	T	C	3: 20,130,685 (GRCm39)	I301T	probably benign	Het
Igsf10	A	T	3: 59,226,514 (GRCm39)	N2386K	probably damaging	Het
Ikbke	G	T	1: 131,186,937 (GRCm39)	T585K	probably benign	Het
Iqgap3	A	G	3: 88,021,287 (GRCm39)	T448A	possibly damaging	Het
Kl	T	C	5: 150,904,450 (GRCm39)	S401P	possibly damaging	Het
Lama4	T	C	10: 38,941,615 (GRCm39)	V684A	probably benign	Het
Lgals8	A	T	13: 12,469,824 (GRCm39)	F45Y	probably damaging	Het
Lgalsl	G	A	11: 20,776,491 (GRCm39)	R134C	probably benign	Het
Lmcd1	T	C	6: 112,306,875 (GRCm39)	V349A	probably benign	Het
Lrp1b	T	A	2: 41,618,718 (GRCm39)	N119Y	possibly damaging	Het
Lrrc73	T	A	17: 46,566,621 (GRCm39)	I157N	probably damaging	Het
Map3k8	A	G	18: 4,334,766 (GRCm39)	Y293H	probably damaging	Het
Mybphl	A	T	3: 108,282,400 (GRCm39)		probably null	Het
Naa12	T	C	18: 80,255,161 (GRCm39)	S152P	probably benign	Het
Ndrg1	A	G	15: 66,802,930 (GRCm39)	M140T	possibly damaging	Het
Or2n1e	T	A	17: 38,585,997 (GRCm39)	C112S	possibly damaging	Het
Or8b38	A	G	9: 37,972,796 (GRCm39)	Y60C	probably damaging	Het
Pbx2	T	C	17: 34,812,951 (GRCm39)	S76P	possibly damaging	Het
Plcl2	T	A	17: 50,913,826 (GRCm39)	S278R	probably benign	Het
Polr3d	A	T	14: 70,676,915 (GRCm39)	L393*	probably null	Het
Prmt6	T	C	3: 110,157,683 (GRCm39)	Q202R	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Sag	T	A	1: 87,759,662 (GRCm39)	I300N	probably damaging	Het
Sap25	T	A	5: 137,640,180 (GRCm39)		probably null	Het
Scarb2	A	G	5: 92,608,695 (GRCm39)	L177P	probably damaging	Het
Sh3pxd2b	A	T	11: 32,372,203 (GRCm39)	N457Y	possibly damaging	Het
Siae	T	A	9: 37,542,902 (GRCm39)		probably null	Het
Slc36a1	T	C	11: 55,119,150 (GRCm39)	L375P	probably damaging	Het
Smg8	A	G	11: 86,976,594 (GRCm39)	V329A	probably damaging	Het
Tas2r113	A	T	6: 132,870,695 (GRCm39)	Y241F	probably damaging	Het
Tm9sf3	T	G	19: 41,244,668 (GRCm39)	S70R	probably benign	Het
Tmem144	C	T	3: 79,732,594 (GRCm39)	S228N	probably damaging	Het
Tmem45a	C	A	16: 56,642,701 (GRCm39)	V157F	possibly damaging	Het
Tpbg	G	T	9: 85,726,429 (GRCm39)	V133L	probably damaging	Het
Trpv3	G	A	11: 73,186,209 (GRCm39)	V667I	possibly damaging	Het
Ube2c	T	C	2: 164,613,241 (GRCm39)	F53S	probably damaging	Het
Vmn1r78	T	A	7: 11,887,250 (GRCm39)	V287D	probably damaging	Het
Vmn2r114	T	A	17: 23,527,035 (GRCm39)	D499V	probably benign	Het
Zpld2	C	G	4: 133,927,610 (GRCm39)	C381S	probably damaging	Het
Zpld2	T	A	4: 133,929,430 (GRCm39)	T292S	possibly damaging	Het

Other mutations in Herc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00329:Herc2	APN	7	55,774,047 (GRCm39)	missense	probably damaging	1.00
IGL00529:Herc2	APN	7	55,807,501 (GRCm39)	missense	probably benign
IGL00548:Herc2	APN	7	55,856,313 (GRCm39)	missense	probably benign	0.20
IGL00970:Herc2	APN	7	55,830,812 (GRCm39)	splice site	probably benign
IGL01141:Herc2	APN	7	55,862,589 (GRCm39)	missense	possibly damaging	0.47
IGL01147:Herc2	APN	7	55,806,697 (GRCm39)	missense	probably benign	0.43
IGL01150:Herc2	APN	7	55,830,881 (GRCm39)	missense	probably damaging	1.00
IGL01519:Herc2	APN	7	55,753,698 (GRCm39)	missense	probably damaging	1.00
IGL01576:Herc2	APN	7	55,876,409 (GRCm39)	critical splice donor site	probably null
IGL01626:Herc2	APN	7	55,734,890 (GRCm39)	missense	probably benign	0.02
IGL01658:Herc2	APN	7	55,809,200 (GRCm39)	missense	probably damaging	1.00
IGL01707:Herc2	APN	7	55,814,935 (GRCm39)	missense	probably damaging	1.00
IGL01727:Herc2	APN	7	55,787,554 (GRCm39)	missense	probably damaging	1.00
IGL01935:Herc2	APN	7	55,803,541 (GRCm39)	missense	probably benign
IGL01969:Herc2	APN	7	55,835,579 (GRCm39)	splice site	probably benign
IGL02074:Herc2	APN	7	55,737,192 (GRCm39)	splice site	probably benign
IGL02261:Herc2	APN	7	55,856,492 (GRCm39)	missense	probably damaging	0.99
IGL02339:Herc2	APN	7	55,771,470 (GRCm39)	missense	probably benign	0.01
IGL02353:Herc2	APN	7	55,764,560 (GRCm39)	missense	probably damaging	1.00
IGL02360:Herc2	APN	7	55,764,560 (GRCm39)	missense	probably damaging	1.00
IGL02409:Herc2	APN	7	55,870,217 (GRCm39)	splice site	probably null
IGL02528:Herc2	APN	7	55,758,641 (GRCm39)	splice site	probably benign
IGL02571:Herc2	APN	7	55,803,134 (GRCm39)	missense	probably damaging	1.00
IGL02578:Herc2	APN	7	55,756,283 (GRCm39)	splice site	probably null
IGL02661:Herc2	APN	7	55,762,821 (GRCm39)	missense	probably damaging	1.00
IGL02664:Herc2	APN	7	55,785,426 (GRCm39)	nonsense	probably null
IGL02675:Herc2	APN	7	55,813,849 (GRCm39)	missense	probably damaging	0.99
IGL02689:Herc2	APN	7	55,815,031 (GRCm39)	splice site	probably benign
IGL02710:Herc2	APN	7	55,787,562 (GRCm39)	missense	possibly damaging	0.95
IGL02750:Herc2	APN	7	55,854,127 (GRCm39)	splice site	probably benign
IGL02754:Herc2	APN	7	55,747,246 (GRCm39)	missense	probably damaging	1.00
IGL03029:Herc2	APN	7	55,818,715 (GRCm39)	missense	probably damaging	1.00
IGL03039:Herc2	APN	7	55,818,769 (GRCm39)	splice site	probably benign
IGL03082:Herc2	APN	7	55,835,671 (GRCm39)	missense	probably benign	0.19
IGL03090:Herc2	APN	7	55,854,221 (GRCm39)	missense	probably damaging	0.96
IGL03154:Herc2	APN	7	55,851,907 (GRCm39)	missense	probably damaging	1.00
IGL03165:Herc2	APN	7	55,841,660 (GRCm39)	missense	probably damaging	1.00
IGL03201:Herc2	APN	7	55,869,516 (GRCm39)	missense	probably damaging	1.00
IGL03234:Herc2	APN	7	55,753,610 (GRCm39)	missense	probably damaging	1.00
IGL03293:Herc2	APN	7	55,804,878 (GRCm39)	missense	probably benign	0.43
IGL03331:Herc2	APN	7	55,785,015 (GRCm39)	splice site	probably benign
IGL03340:Herc2	APN	7	55,740,668 (GRCm39)	missense	possibly damaging	0.51
IGL03409:Herc2	APN	7	55,878,317 (GRCm39)	missense	probably damaging	1.00
alarmed	UTSW	7	55,879,410 (GRCm39)	missense	possibly damaging	0.92
hyper	UTSW	7	55,809,165 (GRCm39)	missense	probably damaging	1.00
R0798_herc2_487	UTSW	7	55,785,431 (GRCm39)	critical splice donor site	probably null
R1370_Herc2_948	UTSW	7	55,818,621 (GRCm39)	missense	probably benign	0.01
R2030_Herc2_144	UTSW	7	55,834,121 (GRCm39)	missense	probably damaging	0.99
uptight	UTSW	7	55,762,958 (GRCm39)	missense	probably damaging	1.00
I0000:Herc2	UTSW	7	55,786,477 (GRCm39)	splice site	probably benign
PIT1430001:Herc2	UTSW	7	55,876,702 (GRCm39)	missense	probably damaging	1.00
R0009:Herc2	UTSW	7	55,857,560 (GRCm39)	missense	probably benign	0.03
R0009:Herc2	UTSW	7	55,857,560 (GRCm39)	missense	probably benign	0.03
R0058:Herc2	UTSW	7	55,820,231 (GRCm39)	missense	possibly damaging	0.93
R0114:Herc2	UTSW	7	55,803,522 (GRCm39)	splice site	probably benign
R0117:Herc2	UTSW	7	55,863,359 (GRCm39)	splice site	probably benign
R0141:Herc2	UTSW	7	55,771,309 (GRCm39)	missense	probably benign	0.17
R0266:Herc2	UTSW	7	55,856,326 (GRCm39)	missense	probably damaging	1.00
R0401:Herc2	UTSW	7	55,807,480 (GRCm39)	missense	probably damaging	0.99
R0403:Herc2	UTSW	7	55,809,165 (GRCm39)	missense	probably damaging	1.00
R0437:Herc2	UTSW	7	55,869,563 (GRCm39)	nonsense	probably null
R0491:Herc2	UTSW	7	55,772,114 (GRCm39)	missense	possibly damaging	0.54
R0499:Herc2	UTSW	7	55,834,117 (GRCm39)	nonsense	probably null
R0580:Herc2	UTSW	7	55,788,539 (GRCm39)	missense	probably damaging	1.00
R0650:Herc2	UTSW	7	55,762,958 (GRCm39)	missense	probably damaging	1.00
R0744:Herc2	UTSW	7	55,855,784 (GRCm39)	splice site	probably benign
R0798:Herc2	UTSW	7	55,785,431 (GRCm39)	critical splice donor site	probably null
R0842:Herc2	UTSW	7	55,771,453 (GRCm39)	missense	probably benign
R0849:Herc2	UTSW	7	55,856,326 (GRCm39)	missense	probably damaging	1.00
R0850:Herc2	UTSW	7	55,854,231 (GRCm39)	missense	probably benign	0.09
R0926:Herc2	UTSW	7	55,782,296 (GRCm39)	missense	possibly damaging	0.67
R1146:Herc2	UTSW	7	55,796,444 (GRCm39)	missense	probably benign
R1146:Herc2	UTSW	7	55,796,444 (GRCm39)	missense	probably benign
R1292:Herc2	UTSW	7	55,846,951 (GRCm39)	missense	probably benign	0.05
R1370:Herc2	UTSW	7	55,818,621 (GRCm39)	missense	probably benign	0.01
R1443:Herc2	UTSW	7	55,854,481 (GRCm39)	missense	possibly damaging	0.69
R1445:Herc2	UTSW	7	55,818,744 (GRCm39)	missense	probably damaging	1.00
R1541:Herc2	UTSW	7	55,785,405 (GRCm39)	missense	probably damaging	1.00
R1550:Herc2	UTSW	7	55,785,406 (GRCm39)	missense	probably damaging	1.00
R1551:Herc2	UTSW	7	55,796,417 (GRCm39)	missense	probably benign	0.01
R1633:Herc2	UTSW	7	55,879,117 (GRCm39)	missense	probably null	1.00
R1635:Herc2	UTSW	7	55,786,415 (GRCm39)	missense	probably benign	0.00
R1659:Herc2	UTSW	7	55,784,853 (GRCm39)	missense	probably benign	0.00
R1682:Herc2	UTSW	7	55,738,148 (GRCm39)	missense	possibly damaging	0.87
R1697:Herc2	UTSW	7	55,803,653 (GRCm39)	missense	probably benign	0.43
R1802:Herc2	UTSW	7	55,834,080 (GRCm39)	missense	probably damaging	1.00
R1835:Herc2	UTSW	7	55,856,513 (GRCm39)	nonsense	probably null
R1836:Herc2	UTSW	7	55,804,853 (GRCm39)	nonsense	probably null
R1872:Herc2	UTSW	7	55,807,257 (GRCm39)	missense	probably benign	0.18
R1889:Herc2	UTSW	7	55,839,561 (GRCm39)	missense	possibly damaging	0.60
R1906:Herc2	UTSW	7	55,764,612 (GRCm39)	missense	probably benign	0.01
R2004:Herc2	UTSW	7	55,787,607 (GRCm39)	missense	probably damaging	1.00
R2030:Herc2	UTSW	7	55,834,121 (GRCm39)	missense	probably damaging	0.99
R2037:Herc2	UTSW	7	55,855,709 (GRCm39)	missense	probably damaging	1.00
R2059:Herc2	UTSW	7	55,813,645 (GRCm39)	missense	probably damaging	1.00
R2068:Herc2	UTSW	7	55,782,245 (GRCm39)	missense	probably damaging	1.00
R2072:Herc2	UTSW	7	55,876,712 (GRCm39)	missense	probably damaging	1.00
R2085:Herc2	UTSW	7	55,862,713 (GRCm39)	missense	possibly damaging	0.94
R2115:Herc2	UTSW	7	55,835,576 (GRCm39)	splice site	probably benign
R2160:Herc2	UTSW	7	55,862,670 (GRCm39)	missense	probably benign	0.00
R2173:Herc2	UTSW	7	55,835,699 (GRCm39)	missense	probably benign	0.27
R2221:Herc2	UTSW	7	55,818,766 (GRCm39)	critical splice donor site	probably null
R2280:Herc2	UTSW	7	55,787,019 (GRCm39)	missense	possibly damaging	0.79
R3078:Herc2	UTSW	7	55,786,991 (GRCm39)	missense	probably benign
R3104:Herc2	UTSW	7	55,785,103 (GRCm39)	missense	probably benign	0.23
R3177:Herc2	UTSW	7	55,803,176 (GRCm39)	missense	probably benign	0.00
R3277:Herc2	UTSW	7	55,803,176 (GRCm39)	missense	probably benign	0.00
R3766:Herc2	UTSW	7	55,813,572 (GRCm39)	missense	probably damaging	1.00
R3770:Herc2	UTSW	7	55,814,755 (GRCm39)	missense	probably benign
R3807:Herc2	UTSW	7	55,857,557 (GRCm39)	missense	probably damaging	1.00
R3912:Herc2	UTSW	7	55,748,185 (GRCm39)	missense	probably damaging	0.98
R4004:Herc2	UTSW	7	55,756,213 (GRCm39)	missense	possibly damaging	0.53
R4039:Herc2	UTSW	7	55,806,159 (GRCm39)	missense	probably damaging	0.98
R4190:Herc2	UTSW	7	55,772,196 (GRCm39)	missense	probably benign	0.03
R4225:Herc2	UTSW	7	55,814,735 (GRCm39)	missense	probably damaging	1.00
R4334:Herc2	UTSW	7	55,876,402 (GRCm39)	missense	probably damaging	1.00
R4405:Herc2	UTSW	7	55,820,225 (GRCm39)	missense	probably damaging	1.00
R4448:Herc2	UTSW	7	55,877,640 (GRCm39)	missense	probably damaging	1.00
R4450:Herc2	UTSW	7	55,877,640 (GRCm39)	missense	probably damaging	1.00
R4565:Herc2	UTSW	7	55,803,586 (GRCm39)	missense	possibly damaging	0.71
R4667:Herc2	UTSW	7	55,781,001 (GRCm39)	missense	probably damaging	1.00
R4747:Herc2	UTSW	7	55,756,141 (GRCm39)	missense	possibly damaging	0.80
R4762:Herc2	UTSW	7	55,820,388 (GRCm39)	missense	probably benign	0.19
R4829:Herc2	UTSW	7	55,756,240 (GRCm39)	missense	probably benign	0.39
R4832:Herc2	UTSW	7	55,748,165 (GRCm39)	nonsense	probably null
R4895:Herc2	UTSW	7	55,872,734 (GRCm39)	missense	probably damaging	1.00
R4904:Herc2	UTSW	7	55,807,234 (GRCm39)	missense	probably damaging	0.99
R4908:Herc2	UTSW	7	55,827,660 (GRCm39)	missense	probably benign	0.01
R4911:Herc2	UTSW	7	55,877,640 (GRCm39)	missense	probably damaging	1.00
R4921:Herc2	UTSW	7	55,879,438 (GRCm39)	missense	probably benign	0.04
R4939:Herc2	UTSW	7	55,856,484 (GRCm39)	missense	probably damaging	1.00
R5155:Herc2	UTSW	7	55,877,574 (GRCm39)	missense	possibly damaging	0.85
R5184:Herc2	UTSW	7	55,772,099 (GRCm39)	missense	probably damaging	1.00
R5269:Herc2	UTSW	7	55,818,618 (GRCm39)	nonsense	probably null
R5306:Herc2	UTSW	7	55,834,709 (GRCm39)	missense	probably damaging	1.00
R5314:Herc2	UTSW	7	55,869,534 (GRCm39)	missense	probably damaging	0.99
R5369:Herc2	UTSW	7	55,832,448 (GRCm39)	missense	probably damaging	1.00
R5418:Herc2	UTSW	7	55,787,313 (GRCm39)	missense	probably damaging	1.00
R5420:Herc2	UTSW	7	55,853,578 (GRCm39)	missense	probably damaging	0.96
R5463:Herc2	UTSW	7	55,844,010 (GRCm39)	missense	probably damaging	1.00
R5510:Herc2	UTSW	7	55,856,519 (GRCm39)	missense	probably damaging	1.00
R5634:Herc2	UTSW	7	55,856,531 (GRCm39)	missense	probably damaging	1.00
R5638:Herc2	UTSW	7	55,854,164 (GRCm39)	missense	probably benign	0.01
R5690:Herc2	UTSW	7	55,807,453 (GRCm39)	missense	probably benign
R5762:Herc2	UTSW	7	55,846,938 (GRCm39)	missense	possibly damaging	0.68
R5807:Herc2	UTSW	7	55,880,667 (GRCm39)	missense	probably damaging	0.99
R5878:Herc2	UTSW	7	55,773,996 (GRCm39)	missense	probably benign
R6036:Herc2	UTSW	7	55,717,801 (GRCm39)	missense	probably benign	0.01
R6036:Herc2	UTSW	7	55,717,801 (GRCm39)	missense	probably benign	0.01
R6083:Herc2	UTSW	7	55,878,253 (GRCm39)	missense	probably benign	0.00
R6192:Herc2	UTSW	7	55,857,510 (GRCm39)	missense	probably damaging	1.00
R6193:Herc2	UTSW	7	55,806,649 (GRCm39)	missense	probably damaging	0.98
R6261:Herc2	UTSW	7	55,846,820 (GRCm39)	nonsense	probably null
R6267:Herc2	UTSW	7	55,802,914 (GRCm39)	nonsense	probably null
R6267:Herc2	UTSW	7	55,854,466 (GRCm39)	missense	possibly damaging	0.51
R6298:Herc2	UTSW	7	55,841,013 (GRCm39)	missense	probably benign
R6299:Herc2	UTSW	7	55,784,803 (GRCm39)	missense	possibly damaging	0.47
R6326:Herc2	UTSW	7	55,872,682 (GRCm39)	missense	probably damaging	0.98
R6347:Herc2	UTSW	7	55,844,151 (GRCm39)	critical splice donor site	probably null
R6394:Herc2	UTSW	7	55,865,729 (GRCm39)	missense	probably damaging	1.00
R6500:Herc2	UTSW	7	55,796,393 (GRCm39)	nonsense	probably null
R6526:Herc2	UTSW	7	55,807,078 (GRCm39)	missense	probably damaging	0.99
R6592:Herc2	UTSW	7	55,857,438 (GRCm39)	critical splice acceptor site	probably null
R6619:Herc2	UTSW	7	55,717,840 (GRCm39)	nonsense	probably null
R6719:Herc2	UTSW	7	55,862,574 (GRCm39)	missense	probably damaging	1.00
R6750:Herc2	UTSW	7	55,747,195 (GRCm39)	missense	probably damaging	1.00
R6807:Herc2	UTSW	7	55,814,670 (GRCm39)	missense	probably damaging	1.00
R6811:Herc2	UTSW	7	55,763,181 (GRCm39)	nonsense	probably null
R6837:Herc2	UTSW	7	55,839,589 (GRCm39)	missense	possibly damaging	0.89
R6838:Herc2	UTSW	7	55,758,526 (GRCm39)	missense	probably damaging	1.00
R6902:Herc2	UTSW	7	55,785,234 (GRCm39)	missense	probably benign	0.37
R6983:Herc2	UTSW	7	55,756,201 (GRCm39)	missense	possibly damaging	0.74
R6985:Herc2	UTSW	7	55,782,228 (GRCm39)	missense	probably damaging	1.00
R6985:Herc2	UTSW	7	55,756,201 (GRCm39)	missense	possibly damaging	0.74
R6986:Herc2	UTSW	7	55,756,201 (GRCm39)	missense	possibly damaging	0.74
R6987:Herc2	UTSW	7	55,756,201 (GRCm39)	missense	possibly damaging	0.74
R7113:Herc2	UTSW	7	55,853,597 (GRCm39)	missense	probably damaging	0.99
R7173:Herc2	UTSW	7	55,853,575 (GRCm39)	missense	probably damaging	1.00
R7202:Herc2	UTSW	7	55,781,034 (GRCm39)	missense	probably damaging	0.99
R7205:Herc2	UTSW	7	55,832,388 (GRCm39)	missense	probably damaging	1.00
R7236:Herc2	UTSW	7	55,734,828 (GRCm39)	missense	probably benign	0.29
R7297:Herc2	UTSW	7	55,786,406 (GRCm39)	missense	probably benign	0.00
R7358:Herc2	UTSW	7	55,832,423 (GRCm39)	missense	possibly damaging	0.48
R7438:Herc2	UTSW	7	55,753,466 (GRCm39)	splice site	probably null
R7537:Herc2	UTSW	7	55,869,527 (GRCm39)	nonsense	probably null
R7578:Herc2	UTSW	7	55,784,548 (GRCm39)	missense	probably benign	0.07
R7614:Herc2	UTSW	7	55,803,023 (GRCm39)	nonsense	probably null
R7638:Herc2	UTSW	7	55,807,186 (GRCm39)	missense	probably benign	0.26
R7638:Herc2	UTSW	7	55,870,273 (GRCm39)	missense	probably damaging	1.00
R7646:Herc2	UTSW	7	55,784,361 (GRCm39)	missense	probably benign
R7663:Herc2	UTSW	7	55,786,433 (GRCm39)	missense	probably benign
R7665:Herc2	UTSW	7	55,802,903 (GRCm39)	missense	probably damaging	1.00
R7691:Herc2	UTSW	7	55,841,593 (GRCm39)	missense	probably benign
R7733:Herc2	UTSW	7	55,838,412 (GRCm39)	missense	probably damaging	0.99
R7767:Herc2	UTSW	7	55,878,275 (GRCm39)	missense	probably benign	0.39
R7802:Herc2	UTSW	7	55,813,838 (GRCm39)	missense	probably damaging	1.00
R7847:Herc2	UTSW	7	55,807,308 (GRCm39)	critical splice donor site	probably null
R7956:Herc2	UTSW	7	55,763,148 (GRCm39)	missense	probably damaging	0.97
R7985:Herc2	UTSW	7	55,814,992 (GRCm39)	missense	probably benign
R8003:Herc2	UTSW	7	55,818,652 (GRCm39)	missense	possibly damaging	0.94
R8045:Herc2	UTSW	7	55,834,648 (GRCm39)	missense	probably damaging	1.00
R8085:Herc2	UTSW	7	55,879,427 (GRCm39)	missense	probably benign	0.01
R8134:Herc2	UTSW	7	55,734,884 (GRCm39)	missense	probably benign	0.10
R8259:Herc2	UTSW	7	55,855,638 (GRCm39)	missense	probably damaging	0.99
R8286:Herc2	UTSW	7	55,879,410 (GRCm39)	missense	possibly damaging	0.92
R8304:Herc2	UTSW	7	55,809,186 (GRCm39)	missense	probably damaging	1.00
R8321:Herc2	UTSW	7	55,879,096 (GRCm39)	missense	possibly damaging	0.84
R8332:Herc2	UTSW	7	55,796,343 (GRCm39)	missense	probably damaging	1.00
R8432:Herc2	UTSW	7	55,804,860 (GRCm39)	missense	probably benign	0.14
R8516:Herc2	UTSW	7	55,856,318 (GRCm39)	missense	probably benign	0.05
R8676:Herc2	UTSW	7	55,838,361 (GRCm39)	missense	probably damaging	1.00
R8738:Herc2	UTSW	7	55,798,402 (GRCm39)	missense	possibly damaging	0.78
R8742:Herc2	UTSW	7	55,744,143 (GRCm39)	missense	probably benign	0.12
R8796:Herc2	UTSW	7	55,785,123 (GRCm39)	missense	probably benign	0.01
R8825:Herc2	UTSW	7	55,700,626 (GRCm39)	start codon destroyed	probably null	0.01
R8826:Herc2	UTSW	7	55,756,144 (GRCm39)	missense	probably benign	0.12
R8842:Herc2	UTSW	7	55,738,059 (GRCm39)	missense	probably damaging	0.99
R9103:Herc2	UTSW	7	55,784,803 (GRCm39)	missense	possibly damaging	0.47
R9124:Herc2	UTSW	7	55,834,056 (GRCm39)	missense	probably damaging	1.00
R9134:Herc2	UTSW	7	55,832,177 (GRCm39)	missense	probably damaging	0.99
R9168:Herc2	UTSW	7	55,802,208 (GRCm39)	missense	probably damaging	0.99
R9173:Herc2	UTSW	7	55,856,350 (GRCm39)	missense	probably damaging	0.97
R9238:Herc2	UTSW	7	55,813,508 (GRCm39)	missense	probably damaging	0.98
R9249:Herc2	UTSW	7	55,762,890 (GRCm39)	missense	probably damaging	1.00
R9344:Herc2	UTSW	7	55,772,112 (GRCm39)	missense	probably benign	0.07
R9432:Herc2	UTSW	7	55,780,932 (GRCm39)	missense	probably damaging	1.00
R9472:Herc2	UTSW	7	55,813,843 (GRCm39)	missense	probably damaging	1.00
R9513:Herc2	UTSW	7	55,762,848 (GRCm39)	missense	probably damaging	1.00
R9579:Herc2	UTSW	7	55,758,500 (GRCm39)	missense	probably damaging	0.99
R9596:Herc2	UTSW	7	55,834,595 (GRCm39)	missense
R9664:Herc2	UTSW	7	55,820,338 (GRCm39)	missense	possibly damaging	0.90
R9760:Herc2	UTSW	7	55,813,659 (GRCm39)	critical splice donor site	probably null
R9781:Herc2	UTSW	7	55,750,096 (GRCm39)	missense	possibly damaging	0.53
RF024:Herc2	UTSW	7	55,876,273 (GRCm39)	missense	probably damaging	1.00
X0011:Herc2	UTSW	7	55,781,040 (GRCm39)	missense	probably benign
X0023:Herc2	UTSW	7	55,740,666 (GRCm39)	missense	possibly damaging	0.73
X0057:Herc2	UTSW	7	55,879,438 (GRCm39)	missense	probably benign	0.04
X0064:Herc2	UTSW	7	55,841,006 (GRCm39)	missense	probably benign
X0064:Herc2	UTSW	7	55,840,959 (GRCm39)	missense	probably benign	0.01
Z1088:Herc2	UTSW	7	55,781,040 (GRCm39)	missense	probably benign
Z1088:Herc2	UTSW	7	55,737,089 (GRCm39)	missense	probably benign	0.00
Z1088:Herc2	UTSW	7	55,876,337 (GRCm39)	missense	probably damaging	1.00
Z1088:Herc2	UTSW	7	55,865,180 (GRCm39)	missense	probably damaging	1.00
Z1088:Herc2	UTSW	7	55,865,129 (GRCm39)	missense	possibly damaging	0.86
Z1176:Herc2	UTSW	7	55,781,040 (GRCm39)	missense	probably benign
Z1176:Herc2	UTSW	7	55,747,281 (GRCm39)	missense	possibly damaging	0.48
Z1176:Herc2	UTSW	7	55,782,246 (GRCm39)	missense	probably damaging	1.00
Z1177:Herc2	UTSW	7	55,781,040 (GRCm39)	missense	probably benign
Z1177:Herc2	UTSW	7	55,771,337 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- ATTCACCCCACAGCGATGATGC -3'
(R):5'- TGGACCACCTGCCTTGAAGATTCC -3'

Sequencing Primer
(F):5'- ACAGCGATGATGCTGACC -3'
(R):5'- gttgatgtgacgaaaattgcc -3'

Posted On

2014-05-23